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Mitochondrial pyruvate carrier 2

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(Redirected from BRP44)
MPC2
Identifiers
AliasesMPC2, BRP44, mitochondrial pyruvate carrier 2, SLC54A2
External IDsOMIM: 614737; MGI: 1917706; HomoloGene: 31675; GeneCards: MPC2; OMA:MPC2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001143674
NM_015415

NM_027430

RefSeq (protein)

NP_001137146
NP_056230

NP_081706

Location (UCSC)Chr 1: 167.92 – 167.94 MbChr 1: 165.29 – 165.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mitochondrial pyruvate carrier 2 (MPC2) also known as brain protein 44 (BRP44) is a protein that in humans is encoded by the MPC2 gene.[5][6][7] It is a member of the Mitochondrial Pyruvate Carrier (MPC) protein family.[8] This protein is involved in transport of pyruvate across the inner membrane of mitochondria in preparation for the pyruvate dehydrogenase reaction.[9]

Interactive pathway map

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Click on genes, proteins and metabolites below to link to respective articles.[§ 1]

[[File:
GlycolysisGluconeogenesis_WP534go to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to WikiPathwaysgo to articlego to Entrezgo to article
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GlycolysisGluconeogenesis_WP534go to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to articlego to WikiPathwaysgo to articlego to Entrezgo to article
|alt=Glycolysis and Gluconeogenesis edit]]
Glycolysis and Gluconeogenesis edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".

Clinical significance

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Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate carrier deficiency (MPC1 gene).[10] The symptoms associated with mutations in the MPC2 gene include early-onset neurological problems, normal lactate/pyruvate ratio (however both lactate and pyruvate are in higher than normal concentrations), lactic acidosis, hypotonia, cardiomegaly, and facial dysmorphia.[10]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143158Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026568Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  6. ^ Tsou AP, Lai C, Danielson P, Noonan DJ, Sutcliffe JG (March 1986). "Structural characterization of a heterogeneous family of rat brain mRNAs". Molecular and Cellular Biology. 6 (3): 768–778. doi:10.1128/mcb.6.3.768. PMC 367577. PMID 3022128.
  7. ^ "BRP44 brain protein 44". Entrez Gene.
  8. ^ "mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family". UniProt.
  9. ^ "Pyruvate transmembrane transporter activity". QuickGO. EMBL-EBI.
  10. ^ a b Pujol C, Lebigot E, Gaignard P, Galai S, Kraoua I, Bault JP, et al. (March 2023). "MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy". Brain. 146 (3): 858–864. doi:10.1093/brain/awac444. PMC 9976959. PMID 36417180.

Further reading

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